view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRINP3_chr1_190092658_190482864 | 190229645 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03927.hp1 NA18939.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0001g0056 a0001c0001t0001g0081 others(3): Show |
6 | 63 | 0.0952 | 14 | c.725 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 5/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277087 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02129.hp2 HG02132.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0095 a0001c0001t0001g0145 a0001c0001t0001g0160 others(6): Show |
9 | 83 | 0.1084 | 14 | c.427 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190277087 | T | TTTTATAT others(7): Show |
intron_variant | MODIFIER | HG02735.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0152 |
2 | 76 | 0.0263 | 14 | c.427 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190301204 | C | CATATATA others(7): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 50 | 0.0200 | 14 | c.237 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190301210 | T | TATATACA others(7): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00639.hp1 HG00741.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(32): Show |
35 | 205 | 0.1707 | 14 | c.237 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190301212 | T | TATATACA others(7): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01243.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 a0001c0001t0001g0132 a0001c0001t0001g0133 |
3 | 238 | 0.0126 | 14 | c.237 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190336840 | T | TCCTCCCT others(7): Show |
intron_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 238 | 0.0042 | 14 | c.237 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190365806 | G | GTATATAT others(7): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0198 | 1 | 47 | 0.0213 | 14 | c.237 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190365806 | G | GTGTATAT others(7): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 47 | 0.0213 | 14 | c.237 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190396713 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18961.hp1 NA18971.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0120 others(4): Show |
7 | 55 | 0.1273 | 14 | c.236 others(33): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRINP3_chr1_190092658_190482864 | 190453203 | A | ATTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02027.hp2 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0051 |
3 | 21 | 0.1429 | 14 | c.236 others(31): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765379 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0001 | 1 | 253 | 0.0040 | 14 | c.209 others(35): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765423 | A | ATATATAT others(7): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0016 | 1 | 77 | 0.0130 | 14 | c.209 others(35): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61765829 | G | GCACACAC others(7): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0184 | 1 | 55 | 0.0182 | 14 | c.209 others(35): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 14/19 | chr17 | TogoVar | |||||||
BRIP1_chr17_61674139_61868528 | 61791488 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0142 | 1 | 54 | 0.0185 | 14 | c.147 others(33): Show |
BRIP1 | ENSG00000136492.10 | transcript | ENST00000259008.7 | protein_coding | 10/19 | chr17 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10111390 | C | CAAAAAAA others(7): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 | 1 | 216 | 0.0046 | 14 | c.-43 others(25): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 4284 | chr3 | TogoVar | |||||||
BRK1_chr3_10110675_10132190 | 10123732 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 27 | 0.0370 | 14 | c.119 others(31): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BRK1_chr3_10110675_10132190 | 10131702 | T | TAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061 | 1 | 61 | 0.0164 | 14 | c.*54 others(25): Show |
BRK1 | ENSG00000254999.4 | transcript | ENST00000530758.2 | protein_coding | 4513 | chr3 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTATATAT others(7): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG02738.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0044 a0001c0001t0001g0220 others(2): Show |
5 | 29 | 0.1724 | 14 | c.*27 others(25): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTGTATAT others(7): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0003g0010 |
3 | 27 | 0.1111 | 14 | c.*27 others(25): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 25 | 0.0400 | 14 | c.*27 others(25): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873189 | G | GTGTGTGT others(7): Show |
downstream_gene_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 25 | 0.0400 | 14 | c.*27 others(25): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1227 | chr14 | TogoVar | |||||||
BRMS1L_chr14_35821338_35876963 | 35873784 | C | CAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 a0001c0001t0001g0185 |
2 | 125 | 0.0160 | 14 | c.*33 others(25): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1822 | chr14 | TogoVar | |||||||
BRMS1_chr11_66332339_66350104 | 66347679 | C | CCCGCCCG others(7): Show |
upstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 9 | 0.1111 | 14 | c.-27 others(25): Show |
BRMS1 | ENSG00000174744.14 | transcript | ENST00000359957.8 | protein_coding | 2576 | chr11 | TogoVar | |||||||
BRSK2_chr11_1384934_1467689 | 1394683 | T | TCCTGGAG others(7): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02647.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0043others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 others(3): Show |
6 | 358 | 0.0168 | 14 | c.91+ others(29): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39185295 | T | TAAAAAAA others(7): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0005 | a0005c0007 | a0005c0007t0038 | a0005c0007t0038g0138 | 1 | 56 | 0.0179 | 14 | c.*10 others(27): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 186 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39203438 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0003 | a0003c0004 | a0003c0004t0014 | a0003c0004t0014g0331 | 1 | 167 | 0.0060 | 14 | c.436 others(31): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 37/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39207451 | A | AACACACA others(7): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00741.hp2 others(35): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0008a0001c0020others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0038 a0001c0001t0003g0294 a0001c0001t0003g0297 others(35): Show |
38 | 113 | 0.3363 | 14 | c.419 others(33): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 36/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39244921 | A | AATATATA others(7): Show |
intron_variant | MODIFIER | HG03654.hp2 NA18968.hp1 NA18983.hp1 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0066a0004c0003t0006 | a0001c0001t0066g0310 a0004c0003t0006g0156 a0004c0003t0006g0157 |
3 | 74 | 0.0405 | 14 | c.248 others(33): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 21/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39248641 | C | CAAAAAAA others(7): Show |
intron_variant | MODIFIER | NA18975.hp2 NA19064.hp2 |
a0002 | a0002c0002a0002c0010 | a0002c0002t0047a0002c0010t0053 | a0002c0002t0047g0213 a0002c0010t0053g0219 |
2 | 13 | 0.1538 | 14 | c.235 others(31): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 20/40 | chr21 | TogoVar | |||||||
BRWD1_chr21_39180482_39318632 | 39286016 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0321 | 1 | 71 | 0.0141 | 14 | c.832 others(31): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 8/40 | chr21 | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80700433 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0056 | 1 | 3 | 0.3333 | 14 | c.283 others(31): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80742408 | C | CCGTATGA others(7): Show |
intron_variant | MODIFIER | HG02257.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0045 | a0001c0001t0038g0147 a0001c0001t0045g0011 |
2 | 263 | 0.0076 | 14 | c.813 others(31): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 8/40 | chrX | TogoVar | |||||||
BRWD3_chrX_80664503_80814877 | 80742409 | T | TGTATGAA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(142): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0007others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(65): Show | a0001c0001t0002g0088 a0001c0001t0002g0105 a0001c0001t0002g0106 others(141): Show |
145 | 261 | 0.5556 | 14 | c.813 others(31): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 8/40 | chrX | TogoVar | |||||||
BSCL2_chr11_62685275_62712424 | 62696278 | T | TTGTGTGT others(7): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG01074.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0022 others(21): Show |
37 | 67 | 0.5522 | 14 | c.487 others(31): Show |
BSCL2 | ENSG00000168000.16 | transcript | ENST00000360796.10 | protein_coding | 3/10 | chr11 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570619 | C | CGGAGGGC others(7): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 HG06807.hp1 |
a0005 | a0005c0011 | a0005c0011t0002 | a0005c0011t0002g0004 | 2 | 292 | 0.0068 | 14 | c.-20 others(25): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1976 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570679 | G | GGGTGGGG others(7): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 HG04184.hp1 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0003 a0001c0003t0004g0040 |
2 | 280 | 0.0071 | 14 | c.-19 others(25): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1916 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 570690 | G | GGCGGAGG others(7): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 NA18947.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0138 a0001c0001t0003g0095 |
2 | 277 | 0.0072 | 14 | c.-19 others(25): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1905 | chr19 | TogoVar | |||||||
BSG_chr19_567596_588493 | 571314 | A | AGCCCTTC others(7): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0043 a0001c0001t0003g0159 |
2 | 304 | 0.0066 | 14 | c.-13 others(25): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1281 | chr19 | TogoVar | |||||||
BSND_chr1_54993933_55022172 | 54996837 | C | CTTTTTTT others(7): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0004 a0001c0001t0009g0004 |
2 | 279 | 0.0072 | 14 | c.-23 others(25): Show |
BSND | ENSG00000162399.9 | transcript | ENST00000651561.1 | protein_coding | 2095 | chr1 | TogoVar | |||||||
BSN_chr3_49549477_49676549 | 49613303 | C | CGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp1 HG01109.hp2 others(19): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0005c0034others(6): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(9): Show | a0001c0001t0002g0112 a0001c0001t0002g0137 a0001c0001t0002g0138 others(19): Show |
22 | 37 | 0.5946 | 14 | c.225 others(33): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49617283 | T | TTATATAT others(7): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03453.hp2 HG03834.hp2 |
a0003 | a0003c0004a0003c0023 | a0003c0004t0006a0003c0023t0016 | a0003c0004t0006g0001 a0003c0004t0006g0116 a0003c0023t0016g0156 |
3 | 66 | 0.0455 | 14 | c.225 others(31): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49624300 | C | CTTTTTTT others(7): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp2 others(41): Show |
a0001a0002a0004others(6): Show | a0001c0001a0002c0002a0002c0008others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(15): Show | a0001c0001t0002g0094 a0001c0001t0002g0096 a0001c0001t0002g0104 others(41): Show |
44 | 74 | 0.5946 | 14 | c.225 others(29): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BSN_chr3_49549477_49676549 | 49673087 | C | CTTTTTTT others(7): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG02300.hp1 NA18991.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0002g0150 a0001c0001t0003g0122 a0001c0001t0012g0135 others(1): Show |
4 | 26 | 0.1538 | 14 | c.*56 others(25): Show |
BSN | ENSG00000164061.5 | transcript | ENST00000296452.5 | protein_coding | 1539 | chr3 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969684 | G | GGAGAGAG others(7): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02145.hp2 HG02559.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0255 a0001c0001t0001g0274 others(7): Show |
10 | 74 | 0.1351 | 14 | c.*3- others(29): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47969684 | G | GGGGAGAG others(7): Show |
intron_variant | MODIFIER | HG03239.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 a0001c0001t0002g0241 |
2 | 66 | 0.0303 | 14 | c.*3- others(29): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 5/5 | chr19 | TogoVar | |||||||
BSPH1_chr19_47963046_47997170 | 47978001 | G | GATATATA others(7): Show |
intron_variant | MODIFIER | HG01516.hp1 HG02145.hp1 HG02683.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0012 a0001c0001t0001g0134 a0001c0001t0001g0135 others(8): Show |
12 | 47 | 0.2553 | 14 | c.125 others(29): Show |
BSPH1 | ENSG00000188334.3 | transcript | ENST00000344839.3 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
BSPRY_chr9_113344541_113376222 | 113352480 | G | GACACACA others(7): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(79): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0047 a0001c0001t0001g0214 a0001c0001t0002g0004 others(64): Show |
82 | 307 | 0.2671 | 14 | c.202 others(31): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113362174 | G | GGTGGGTG others(7): Show |
intron_variant | MODIFIER | NA18967.hp1 NA18972.hp2 NA18984.hp1 others(3): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0003a0001c0002t0007a0001c0007t0003 | a0001c0002t0003g0057 a0001c0002t0003g0256 a0001c0002t0003g0264 others(3): Show |
6 | 210 | 0.0286 | 14 | c.532 others(29): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
BST1_chr4_15698065_15737787 | 15698713 | G | GTATATAT others(7): Show |
upstream_gene_variant | MODIFIER | HG01943.hp2 HG01952.hp2 HG02145.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0007others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0007t0002others(2): Show | a0001c0001t0001g0211 a0001c0001t0001g0310 a0002c0002t0001g0012 others(8): Show |
11 | 47 | 0.2340 | 14 | c.-44 others(25): Show |
BST1 | ENSG00000109743.11 | transcript | ENST00000265016.9 | protein_coding | 4351 | chr4 | TogoVar |